P32T (p.Pro32Thr) variant of CYP21A2 (Steroid 21-hydroxylase)
P32T (p.Pro32Thr) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
P32T (p.Pro32Thr) variant details
- p.Pro32Thr
- gnomAD rs1489113187
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 23.60
- PolyPhen-2 0.71
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available